J M Quirk
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Explore the profile of J M Quirk including associated specialties, affiliations and a list of published articles.
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25
Citations
648
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Recent Articles
1.
Takenaka T, Murray G, Qin G, Quirk J, Ohshima T, Qasba P, et al.
Proc Natl Acad Sci U S A
. 2000 Jun;
97(13):7515-20.
PMID: 10840053
Fabry disease is a compelling target for gene therapy as a treatment strategy. A deficiency in the lysosomal hydrolase alpha-galactosidase A (alpha-gal A; EC ) leads to impaired catabolism of...
2.
Schiffmann R, Murray G, Treco D, Daniel P, Myers M, Quirk J, et al.
Proc Natl Acad Sci U S A
. 2000 Jan;
97(1):365-70.
PMID: 10618424
Fabry disease is a lysosomal storage disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (alpha-gal A). This enzymatic defect results in the accumulation of the glycosphingolipid globotriaosylceramide...
3.
Ohshima T, Schiffmann R, Murray G, Kopp J, Quirk J, Stahl S, et al.
Proc Natl Acad Sci U S A
. 1999 May;
96(11):6423-7.
PMID: 10339603
Fabry disease is an X-linked metabolic disorder caused by a deficiency of alpha-galactosidase A (alpha-Gal A). The enzyme defect leads to the systemic accumulation of glycosphingolipids with alpha-galactosyl moieties consisting...
4.
Ohshima T, Murray G, Swaim W, Longenecker G, Quirk J, Cardarelli C, et al.
Proc Natl Acad Sci U S A
. 1997 Mar;
94(6):2540-4.
PMID: 9122231
Fabry disease is an X-linked inherited metabolic disorder that is caused by a deficiency of alpha-galactosidase A (alpha-Gal A). Progressive deposition of neutral glycosphingolipids that have terminal a-linked galactosyl moieties...
5.
Medin J, TUDOR M, Simovitch R, Quirk J, Jacobson S, Murray G, et al.
Proc Natl Acad Sci U S A
. 1996 Jul;
93(15):7917-22.
PMID: 8755577
Fabry disease is an X-linked metabolic disorder due to a deficiency of alpha-galactosidase A (alpha-gal A; EC 3.2.1.22). Patients accumulate glycosphingolipids with terminal alpha-galactosyl residues that come from intracellular synthesis,...
6.
Ohshima T, Murray G, Nagle J, Quirk J, Kraus M, Barton N, et al.
Gene
. 1995 Dec;
166(2):277-80.
PMID: 8543175
alpha-Galactosidase A (alpha-D-galactoside galactohydrolase, EC 3.2.1.22; alpha GalA) is a lysosomal enzyme that hydrolyses the alpha-D-galactosyl residues from glycosphingolipids. Fabry disease, an inhibited X-linked recessive human metabolic disorder, results from...
7.
Kaneski C, Oliver K, Quirk J
In Vitro Cell Dev Biol
. 1991 Apr;
27A(4):277-8.
PMID: 1649815
No abstract available.
8.
Pentchev P, Comly M, Kruth H, Tokoro T, Butler J, Sokol J, et al.
FASEB J
. 1987 Jul;
1(1):40-5.
PMID: 3609608
Incubation of mutant Niemann-Pick C fibroblasts with low-density lipoprotein (LDL) resulted in excessive internalization of lipoprotein and extensive cellular over-accumulation of unesterified cholesterol. The uptake of LDL by the mutant...
9.
Butler J, Comly M, Kruth H, Vanier M, Fink J, Barton N, et al.
Proc Natl Acad Sci U S A
. 1987 Jan;
84(2):556-60.
PMID: 3540969
Fluorescence microscopic examination of filipin-stained cultured skin fibroblasts derived from two brothers with group D Niemann-Pick disease revealed abnormal storage of low density lipoprotein (LDL)-derived cholesterol. LDL stimulation of intracellular...
10.
GAL A, Weis A, Quirk J, Tokoro T, Brady R
Chem Phys Lipids
. 1986 Dec;
42(1-3):199-207.
PMID: 3829206
The synthesis of L-galactosylceramide is described. Data are presented indicating that this enantiomorph of D-galactocerebroside is not cleaved by galactocerebroside-beta-galactosidase obtained from mammalian tissues. The synthesis of L-glucosylceramide and beta-D-glucothiocerebroside...